title: von Hippel-Lindau disease: a clinical and scientific review.
abstract: The autosomal dominantly inherited disorder von Hippel-Lindau disease (VHL) is caused by germline mutations in the VHL tumour suppressor gene (TSG). VHL mutations predispose to the development of a variety of tumours (most commonly retinal and central nervous system haemangioblastomas, clear cell renal carcinoma and phaeochromocytomas). Here, we review the clinical and genetic features of VHL disease, briefly review the molecular pathogenesis and outline clinical management and tumour surveillance strategies.
authors.affiliation: Centre for Rare Diseases and Personalised Medicine and Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, Institute of Biomedical Research, Birmingham, UK. E.R.MAHER@bham.ac.uk
authors.forename: Eamonn R
authors.initials: ER
authors.lastname: Maher
authors.forename: Hartmut Ph
authors.initials: HP
authors.lastname: Neumann
authors.forename: Stéphane
authors.initials: S
authors.lastname: Richard
mesh_terms: D000310:Adrenal Gland Neoplasms; D002292:Carcinoma, Renal Cell / Q000175:diagnosis / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D005799:Genes, Dominant; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D018325:Hemangioblastoma / Q000175:diagnosis / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008403:Mass Screening; D010673:Pheochromocytoma / Q000175:diagnosis / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D006623:von Hippel-Lindau Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*
chemical_list: D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human